LAMB2-related infantile-onset nephrotic syndrome
Findings
No curated finding names LAMB2-related infantile-onset nephrotic syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.
Definition from the Mondo Disease Ontology (MONDO:0013621), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Diffuse mesangial sclerosisHPOHP:0001967
- 1 of 1 reported patient
- GlomerulonephritisHPOHP:0000099
- 4 of 4 reported patients
- HematuriaHPOHP:0000790
- 1 of 1 reported patient
- HypertensionHPOHP:0000822
- 2 of 2 reported patients
- Nephrotic syndromeHPOHP:0000100
- 4 of 4 reported patients · Neonatal onset
- 2 of 2 reported patients
- ProteinuriaHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LAMB2HGNC:6487
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: LAMB2-related infantile-onset nephrotic syndrome
- Also called
- mesangial sclerosis, diffuse renal, with ocular abnormalities